Format
Sort by
Items per page

Send to

Choose Destination

Best matches for progressive muscular atrophy:

Progressive Muscular Atrophy. Liewluck T et al. Neurol Clin. (2015)

Adult-onset spinal muscular atrophy: An update. Juntas Morales R et al. Rev Neurol (Paris). (2017)

Spinal muscular atrophy associated with progressive myoclonus epilepsy. Topaloglu H et al. Epileptic Disord. (2016)

Search results

Items: 1 to 20 of 9293

1.

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B.

Am J Med Genet A. 2019 May 18. doi: 10.1002/ajmg.a.61198. [Epub ahead of print]

PMID:
31102495
2.

The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model.

Ando S, Funato M, Ohuchi K, Inagaki S, Sato A, Seki J, Kawase C, Saito T, Nishio H, Nakamura S, Shimazawa M, Kaneko H, Hara H.

Neurochem Res. 2019 May 17. doi: 10.1007/s11064-019-02814-4. [Epub ahead of print]

PMID:
31102025
3.

Targeted Oligonucleotides for Treating Neurodegenerative Tandem Repeat Diseases.

Zain R, Smith CIE.

Neurotherapeutics. 2019 May 16. doi: 10.1007/s13311-019-00712-9. [Epub ahead of print] Review.

PMID:
31098852
4.

Nusinersen: A Novel Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy.

Neil EE, Bisaccia EK.

J Pediatr Pharmacol Ther. 2019 May-Jun;24(3):194-203. doi: 10.5863/1551-6776-24.3.194. Review.

5.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA.

Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print]

PMID:
31092906
6.

Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency.

Habibi Zoham M, Eghbalkhah A, Kamrani K, Khosroshahi N, Yousefimanesh H, Eskandarizadeh Z.

J Pediatr Intensive Care. 2018 Sep;7(3):159-162. doi: 10.1055/s-0037-1617434. Epub 2018 Jan 4.

PMID:
31073488
7.

Novel stochastic framework for automatic segmentation of human thigh MRI volumes and its applications in spinal cord injured individuals.

Mesbah S, Shalaby AM, Stills S, Soliman AM, Willhite A, Harkema SJ, Rejc E, El-Baz AS.

PLoS One. 2019 May 9;14(5):e0216487. doi: 10.1371/journal.pone.0216487. eCollection 2019.

8.

Long-term benefits of nusinersen in later-onset spinal muscular atrophy.

Fyfe I.

Nat Rev Neurol. 2019 May 7. doi: 10.1038/s41582-019-0202-4. [Epub ahead of print] No abstract available.

PMID:
31065075
9.

Interaction between alpha-COP and SMN ameliorates disease phenotype in a mouse model of spinal muscular atrophy.

Custer SK, Astroski JW, Li HX, Androphy EJ.

Biochem Biophys Res Commun. 2019 May 3. pii: S0006-291X(19)30833-2. doi: 10.1016/j.bbrc.2019.04.176. [Epub ahead of print]

PMID:
31060774
10.

Spinal Muscular Atrophy and Common Therapeutic Advances.

Bozorg Qomi S, Asghari A, Salmaninejad A, Mojarrad M.

Fetal Pediatr Pathol. 2019 May 7:1-13. doi: 10.1080/15513815.2018.1520374. [Epub ahead of print]

PMID:
31060440
11.

Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMA Patient Community.

Cruz R, Belter L, Wasnock M, Nazarelli A, Jarecki J.

Clin Ther. 2019 May;41(5):943-960.e4. doi: 10.1016/j.clinthera.2019.03.012. Epub 2019 May 3.

12.

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

Serra-Juhe C, Tizzano EF.

Eur J Hum Genet. 2019 May 3. doi: 10.1038/s41431-019-0415-4. [Epub ahead of print] Review.

PMID:
31053787
13.

Nusinersen for spinal muscular atrophy.

[No authors listed]

Aust Prescr. 2019 Apr;42(2):75-76. doi: 10.18773/austprescr.2019.019. Epub 2019 Feb 28. Review. No abstract available.

14.

Development of the Initial Surveys for the All of Us Research Program.

Cronin RM, Jerome RN, Mapes B, Andrade R, Johnston R, Ayala J, Schlundt D, Bonnet K, Kripalani S, Goggins K, Wallston KA, Couper MP, Elliott MR, Harris P, Begale M, Munoz F, Lopez-Class M, Cella D, Condon D, AuYoung M, Mazor KM, Mikita S, Manganiello M, Borselli N, Fowler S, Rutter JL, Denny JC, Karlson EW, Ahmedani BK, O'Donnell C; Vanderbilt University Medical Center Pilot Team, and the Participant Provided Information Committee.

Epidemiology. 2019 Apr 29. doi: 10.1097/EDE.0000000000001028. [Epub ahead of print]

PMID:
31045611
15.

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA.

Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr.

16.

Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?

Ropars J, Barnerias C, Hully M, Chabalier D, Peudenier S, Barzic A, Cros P, Desguerre I.

Neuromuscul Disord. 2019 Mar 14. pii: S0960-8966(18)31222-7. doi: 10.1016/j.nmd.2019.03.003. [Epub ahead of print]

PMID:
31040038
17.

Current Treatment Options in Neurology-SMA Therapeutics.

Waldrop MA, Kolb SJ.

Curr Treat Options Neurol. 2019 Apr 29;21(6):25. doi: 10.1007/s11940-019-0568-z. Review.

PMID:
31037425
18.

Dissecting Motor Neuron Disease With Drosophila melanogaster.

Walters R, Manion J, Neely GG.

Front Neurosci. 2019 Apr 12;13:331. doi: 10.3389/fnins.2019.00331. eCollection 2019. Review.

19.

Newborn screening for SMA in Southern Belgium.

Boemer F, Caberg JH, Dideberg V, Dardenne D, Bours V, Hiligsmann M, Dangouloff T, Servais L.

Neuromuscul Disord. 2019 Feb 15. pii: S0960-8966(18)30482-6. doi: 10.1016/j.nmd.2019.02.003. [Epub ahead of print]

PMID:
31030938
20.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Apr 26. doi: 10.1038/s41436-019-0506-1. [Epub ahead of print]

PMID:
31028354

Supplemental Content

Loading ...
Support Center